ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp)

gnomAD frequency: 0.00001  dbSNP: rs768210838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000681833 SCV001146255 uncertain significance not provided 2018-11-29 criteria provided, single submitter clinical testing
Invitae RCV000681833 SCV002178038 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 562374). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TRPC6 protein function. This missense change has been observed in individual(s) with clinical features of TRPC6-related conditions (PMID: 30586318). This variant is present in population databases (rs768210838, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 215 of the TRPC6 protein (p.Arg215Trp).
Gharavi Laboratory, Columbia University RCV000681833 SCV000809310 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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